Canonical Allele Identifier: CA3580329

Gene: SLC34A1

Linked Data

• ClinVar Variation Id: 234931
• ClinVar RCV Id: RCV000223670 ; RCV000951080 ; RCV002503877
• dbSNP Id: rs876661296
• ExAC: 5:176813232 GGTCCCCAAGCTGCGCCAGGCT / G
• gnomAD v2: 5-176813232-GGTCCCCAAGCTGCGCCAGGCT-G
• gnomAD v3: 5-177386231-GGTCCCCAAGCTGCGCCAGGCT-G
• gnomAD v4: 5-177386231-GGTCCCCAAGCTGCGCCAGGCT-G
• COSMIC: COSM1684046 ; COSM5713127
• MyVariant Identifiers: chr5:g.176813234_176813254del (hg19) ; chr5:g.176813233_176813253del (hg19) ; chr5:g.177386233_177386253del (hg38) ; chr5:g.177386232_177386252del (hg38)
• PubMed: PMID:26047794

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177386233_177386253del , CM000667.2:g.177386233_177386253del	GRCh38
NC_000005.9:g.176813234_176813254del , CM000667.1:g.176813234_176813254del	GRCh37
NC_000005.8:g.176745840_176745860del	NCBI36
NG_016223.1:g.6803_6823del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324417.6:c.272_292del MANE Select	ENSP00000321424.4:p.Val91_Ala97del
ENST00000324417.5:c.272_292del	ENSP00000321424.4:p.Val91_Ala97del
ENST00000504577.5:c.272_292del	ENSP00000423733.1:p.Val91_Ala97del
ENST00000507685.5:n.356_376del
ENST00000512593.5:c.272_292del	ENSP00000423022.1:p.Val91_Ala97del
NM_001167579.1:c.272_292del	NP_001161051.1:p.Val91_Ala97del
NM_003052.4:c.272_292del	NP_003043.3:p.Val91_Ala97del
XM_005265975.1:c.272_292del	XP_005266032.1:p.Val91_Ala97del
XR_941112.1:n.319_339del
XR_941113.1:n.319_339del
XM_017009773.2:c.272_292del	XP_016865262.1:p.Val91_Ala97del
XM_017009775.2:c.272_292del	XP_016865264.1:p.Val91_Ala97del
XM_024446191.1:c.272_292del	XP_024301959.1:p.Val91_Ala97del
XR_941112.2:n.373_393del
XR_941113.2:n.373_393del
NM_003052.5:c.272_292del MANE Select	NP_003043.3:p.Val91_Ala97del
NM_001167579.2:c.272_292del	NP_001161051.1:p.Val91_Ala97del